Ehlers–Danlos syndrome (EDS) Awareness Month

Ehlers–Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissue. Connective tissue is a type of tissue that holds together and supports other tissues in the body. It is found in the skin, joints, blood vessels, and internal organs.

In March 2017, an international consortium of more than 90 EDS experts established new diagnostic criteria, creating 13 subtypes of Ehlers-Danlos Syndrome. The three most common forms are: Hypermobile EDS (hEDS), Classical EDS (cEDS), and Vascular EDS (vEDS). (1)

EDS is caused by a defect in one of the genes that codes for collagen. Collagen is a protein that is essential for the strength and flexibility of connective tissue. When there is a defect in the gene for collagen, it can lead to a variety of symptoms, including loose joints, stretchy skin, and fragile blood vessels.

There are many different types of EDS, each with its own set of symptoms. The most common type is hypermobility EDS, which is characterized by loose joints and stretchy skin. Other types of EDS include classical EDS, vascular EDS, and kyphoscoliotic EDS.

EDS is a lifelong condition that can cause a variety of health problems. Treatment for EDS focuses on managing symptoms and preventing complications. There is no cure for EDS.

The diagnosis of Ehlers-Danlos syndrome is based on a combination of the patient's symptoms, family history, and a physical examination. There is no single test that can definitively diagnose EDS.

The physical examination may reveal loose joints, stretchy skin, and other signs of EDS. The doctor may also order tests to rule out other conditions that can cause similar symptoms, such as Marfan syndrome and osteogenesis imperfecta.

If you are concerned that you may have EDS, talk to your doctor. They can help you determine if you have the condition and recommend the best course of treatment.

There are no specific laboratory findings that are diagnostic for Ehlers-Danlos syndrome. However, some tests may be helpful in ruling out other conditions that can cause similar symptoms. These tests may include:

A blood test to check for the presence of a genetic mutation that is associated with EDS.

A skin biopsy to look for changes in the collagen fibers.

An imaging test, such as an X-ray or MRI, to look for signs of joint damage or other complications of EDS.

If you are concerned that you may have EDS, talk to your doctor. They can help you determine if you have the condition and recommend the best course of treatment.

There are a number of genetic tests that can be used to diagnose Ehlers-Danlos syndrome. These tests look for mutations in the genes that code for collagen. The most common type of EDS, hypermobility EDS, is caused by mutations in the COL5A1 gene. Other types of EDS are caused by mutations in other genes, such as COL1A1, COL1A2, COL3A1, and COL5A2.

The COL5A1 gene provides instructions for making a component of type V collagen, which is a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, and muscles. . Specifically, the gene produces a component of type V collagen called the pro-α1(V) chain. Mutations in the COL5A1 gene have been associated with Ehlers-Danlos syndrome, types I and II, which are characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. More than 100 COL5A1 gene mutations have been identified in people with classical Ehlers-Danlos syndrome, and these mutations affect one copy of the gene in each cell, reducing the amount of pro-α1(V) chains that cells produce. As a result, fibrils containing type V and type I collagens in the skin and other tissues are disorganized and larger than usual.

Genetic testing can be helpful in diagnosing EDS, as it can confirm the diagnosis and help to determine the type of EDS that is present. Genetic testing can also be helpful in ruling out other conditions that can cause similar symptoms.

The inheritance pattern of Ehlers-Danlos Syndrome (EDS) varies depending on the type. The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance, meaning that one copy of the altered gene in each cell is sufficient to cause the disorder. The classical-like, cardiac-valvular, dermatosparaxis, kyphoscoliotic, spondylodysplastic, and musculocontractural types of EDS, as well as brittle cornea syndrome, are inherited in an autosomal recessive pattern, meaning that two copies of a gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder (2)

If you are concerned that you may have EDS, talk to your doctor. They can help you determine if you need genetic testing and recommend the best course of treatment.

Ref:

1. 13 Types of EDS and Their Symptoms - University Health News
2. https://www.sciencedirect.com/topics/medicine-and-dentistry/ehlers-danlos-syndrome